Mutagenetix > Incidental Mutation

Incidental Mutation 'R8857:Spast'

675442

Institutional Source

Beutler Lab

Gene Symbol

Spast

Ensembl Gene

ENSMUSG00000024068

Gene Name

spastin

Synonyms

Spg4

MMRRC Submission

068677-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8857 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74645982-74698110 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74675938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 327 (M327K)

Ref Sequence

ENSEMBL: ENSMUSP00000024869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024869] [ENSMUST00000224711] [ENSMUST00000225549]

AlphaFold

Q9QYY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024869
AA Change: M327K

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024869
Gene: ENSMUSG00000024068
AA Change: M327K

Domain	Start	End	E-Value	Type
low complexity region	3	46	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
low complexity region	90	113	N/A	INTRINSIC
MIT	114	192	4.33e-18	SMART
AAA	372	508	7.59e-17	SMART
low complexity region	513	520	N/A	INTRINSIC
Pfam:Vps4_C	560	610	1.3e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224711
AA Change: M326K

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225549
AA Change: M294K

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1881

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation in this gene are sterile and display progressive axonopathy with focal axonal swellings and late onset gait abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,119,287 (GRCm39)	L266F	possibly damaging	Het
Adgrf3	A	T	5: 30,402,065 (GRCm39)	C654*	probably null	Het
Adgrl1	C	A	8: 84,657,657 (GRCm39)	A421D	probably benign	Het
Adra1b	C	G	11: 43,727,092 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,399,939 (GRCm39)	V710E	possibly damaging	Het
Arhgef5	T	C	6: 43,264,558 (GRCm39)	V1523A	probably damaging	Het
AW551984	G	C	9: 39,511,831 (GRCm39)	A60G	probably damaging	Het
Bdh1	A	T	16: 31,265,450 (GRCm39)	T42S	probably benign	Het
C130073F10Rik	G	A	4: 101,747,555 (GRCm39)	P158L	possibly damaging	Het
Cacna2d4	A	T	6: 119,248,909 (GRCm39)	K457*	probably null	Het
Chd3	G	A	11: 69,253,146 (GRCm39)	P223L	probably benign	Het
Cnst	T	C	1: 179,437,878 (GRCm39)	S481P	probably damaging	Het
Col6a3	T	A	1: 90,703,485 (GRCm39)	K3027N	unknown	Het
Csf2rb2	T	C	15: 78,178,613 (GRCm39)	D111G	probably null	Het
Disc1	A	C	8: 125,891,870 (GRCm39)	E641A	probably damaging	Het
Fbln5	C	A	12: 101,726,990 (GRCm39)	C320F	probably damaging	Het
Fbn2	G	A	18: 58,286,933 (GRCm39)	T242I	probably damaging	Het
Frem1	T	A	4: 82,922,280 (GRCm39)		probably benign	Het
Gpsm1	G	C	2: 26,230,457 (GRCm39)	G469A	possibly damaging	Het
Hic1	A	G	11: 75,056,228 (GRCm39)	I887T	probably benign	Het
Hltf	T	C	3: 20,159,825 (GRCm39)	V692A	probably damaging	Het
Hsd17b13	A	G	5: 104,125,063 (GRCm39)	L40P	probably damaging	Het
Hydin	T	C	8: 111,298,587 (GRCm39)		probably null	Het
Irf2bpl	T	C	12: 86,929,359 (GRCm39)	Y438C	possibly damaging	Het
Itgb4	A	T	11: 115,871,853 (GRCm39)	N219I	probably benign	Het
Knop1	T	C	7: 118,451,949 (GRCm39)	K257E		Het
Krtap19-5	A	T	16: 88,693,139 (GRCm39)	F58I	unknown	Het
L3mbtl2	T	A	15: 81,571,320 (GRCm39)	F709L	unknown	Het
Map1a	G	A	2: 121,138,098 (GRCm39)	R2924H	probably damaging	Het
Mfsd13a	A	G	19: 46,356,567 (GRCm39)	D224G	probably benign	Het
Mme	A	T	3: 63,256,070 (GRCm39)	N510I	probably damaging	Het
Morc2a	T	A	11: 3,627,484 (GRCm39)		probably null	Het
Mptx2	T	C	1: 173,102,452 (GRCm39)	E79G	probably benign	Het
Nutm1	A	G	2: 112,081,523 (GRCm39)	M380T	probably benign	Het
Or5ac25	A	T	16: 59,182,041 (GRCm39)	I180N	probably damaging	Het
P2rx1	A	G	11: 72,903,197 (GRCm39)		probably benign	Het
Padi4	A	G	4: 140,501,472 (GRCm39)	I7T	probably damaging	Het
Phf20l1	T	C	15: 66,513,781 (GRCm39)	S1013P	probably benign	Het
Plb1	T	C	5: 32,521,556 (GRCm39)	V1469A	unknown	Het
Polr1g	C	T	7: 19,093,355 (GRCm39)		probably benign	Het
Prkab1	T	C	5: 116,158,147 (GRCm39)	N150D	probably damaging	Het
Qsox1	A	G	1: 155,658,333 (GRCm39)	V412A	possibly damaging	Het
Rai1	A	G	11: 60,077,393 (GRCm39)	S486G	probably benign	Het
Rev3l	T	A	10: 39,670,965 (GRCm39)	Y170*	probably null	Het
Rims2	T	A	15: 39,543,044 (GRCm39)	M1426K	possibly damaging	Het
Selenoi	C	A	5: 30,461,160 (GRCm39)	S132*	probably null	Het
Shtn1	T	C	19: 58,978,800 (GRCm39)	I498M	probably damaging	Het
Sin3b	T	C	8: 73,483,523 (GRCm39)	M970T	probably benign	Het
Slc17a8	A	G	10: 89,427,022 (GRCm39)	F360L	probably damaging	Het
Slc7a11	A	G	3: 50,393,305 (GRCm39)	Y113H	probably damaging	Het
Sphkap	T	A	1: 83,258,288 (GRCm39)	I152F	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tiam1	A	T	16: 89,662,145 (GRCm39)	S658T	probably damaging	Het
Tmem174	G	T	13: 98,773,433 (GRCm39)	H132Q	probably damaging	Het
Tnfrsf10b	G	A	14: 70,012,543 (GRCm39)	V117I	probably benign	Het
Tnr	A	G	1: 159,713,728 (GRCm39)	T719A	probably benign	Het
Tomm34	G	A	2: 163,896,379 (GRCm39)	P292S	probably damaging	Het
Trav15-1-dv6-1	T	A	14: 53,797,615 (GRCm39)	F88Y	probably damaging	Het
Trp63	A	T	16: 25,639,226 (GRCm39)	H138L	probably damaging	Het
U2af2	T	A	7: 5,065,290 (GRCm39)	S2T	probably damaging	Het
Uroc1	T	C	6: 90,334,510 (GRCm39)	V574A	possibly damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp488	A	C	14: 33,692,760 (GRCm39)	S134R	probably benign	Het
Zfp950	T	C	19: 61,116,001 (GRCm39)	D2G	probably benign	Het
Zfyve1	T	A	12: 83,598,374 (GRCm39)	H618L	probably damaging	Het
Zp1	T	G	19: 10,893,888 (GRCm39)	D439A	probably damaging	Het

Other mutations in Spast

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02226:Spast	APN	17	74,679,334 (GRCm39)	splice site	probably benign
R0671:Spast	UTSW	17	74,646,446 (GRCm39)	splice site	probably benign
R1170:Spast	UTSW	17	74,688,963 (GRCm39)	critical splice acceptor site	probably null
R1698:Spast	UTSW	17	74,663,155 (GRCm39)	nonsense	probably null
R2076:Spast	UTSW	17	74,659,026 (GRCm39)	missense	probably damaging	1.00
R4334:Spast	UTSW	17	74,659,010 (GRCm39)	missense	probably damaging	1.00
R4765:Spast	UTSW	17	74,676,211 (GRCm39)	missense	probably damaging	1.00
R5002:Spast	UTSW	17	74,676,221 (GRCm39)	nonsense	probably null
R5911:Spast	UTSW	17	74,694,058 (GRCm39)	missense	probably benign	0.00
R6073:Spast	UTSW	17	74,680,300 (GRCm39)	missense	probably damaging	1.00
R6183:Spast	UTSW	17	74,680,353 (GRCm39)	missense	probably damaging	0.99
R6450:Spast	UTSW	17	74,675,835 (GRCm39)	missense	probably benign	0.01
R6819:Spast	UTSW	17	74,674,281 (GRCm39)	missense	possibly damaging	0.47
R6821:Spast	UTSW	17	74,658,957 (GRCm39)	missense	probably benign	0.02
R7349:Spast	UTSW	17	74,680,319 (GRCm39)	missense	probably damaging	0.99
R7611:Spast	UTSW	17	74,676,198 (GRCm39)	missense	probably damaging	1.00
R7715:Spast	UTSW	17	74,675,921 (GRCm39)	missense	probably benign	0.01
R8348:Spast	UTSW	17	74,666,293 (GRCm39)	missense	probably benign	0.41
R8448:Spast	UTSW	17	74,666,293 (GRCm39)	missense	probably benign	0.41
R8698:Spast	UTSW	17	74,666,341 (GRCm39)	missense	probably benign	0.00
R8898:Spast	UTSW	17	74,695,273 (GRCm39)	missense	probably damaging	1.00
R9269:Spast	UTSW	17	74,646,069 (GRCm39)	nonsense	probably null
R9472:Spast	UTSW	17	74,681,143 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CGGTGATTTATGAGTAAGAAGTCAC -3'
(R):5'- TCTCACAACAGAAGCATTGTTCAGG -3'

Sequencing Primer
(F):5'- AGTAAGAAGTCACTAAGTTGTTTCAC -3'
(R):5'- CAGGTACTTAAACGTGGCGTATTAGC -3'

Posted On

2021-07-15